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Journal Abstract Search

132 related items for PubMed ID: 36598152

  • 21. Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.
    Kalish JM, Conlin LK, Mostoufi-Moab S, Wilkens AB, Mulchandani S, Zelley K, Kowalski M, Bhatti TR, Russo P, Mattei P, Mackenzie WG, LiVolsi V, Nichols KE, Biegel JA, Spinner NB, Deardorff MA.
    Am J Med Genet A; 2013 May; 161A(5):993-1001. PubMed ID: 23532898
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  • 22. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
    Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA.
    Am J Med Genet A; 2013 Aug; 161A(8):1929-39. PubMed ID: 23804593
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  • 23. Detection of maternal uniparental disomy 9 in association with low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with intrauterine growth restriction, abnormal first-trimester screening result (low PAPP-A and low PlGF), maternal preeclampsia and a favorable outcome.
    Chen CP, Chern SR, Wu PS, Chen SW, Wu FT, Chen LF, Chen YY, Wang W.
    Taiwan J Obstet Gynecol; 2022 Jan; 61(1):141-145. PubMed ID: 35181026
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  • 26. Prenatal diagnosis of maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome.
    Chen CP, Liou JD, Chern SR, Wu PS, Chen SW, Wu FT, Lee MS, Chen YY, Wang W.
    Taiwan J Obstet Gynecol; 2022 Jan; 61(1):146-149. PubMed ID: 35181027
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  • 28. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.
    Takama Y, Kubota A, Nakayama M, Higashimoto K, Jozaki K, Soejima H.
    Pediatr Int; 2014 Dec; 56(6):931-934. PubMed ID: 25521982
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  • 29. Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?
    Maas SM, Krzyzewska IM, Lombardi MPR, Mannens MMA, Vos N, Bliek J.
    Eur J Hum Genet; 2023 Jun; 31(6):615-616. PubMed ID: 37012326
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  • 32. Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia.
    Reed RC, Beischel L, Schoof J, Johnson J, Raff ML, Kapur RP.
    Pediatr Dev Pathol; 2008 Jun; 11(5):377-83. PubMed ID: 18260692
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  • 34. Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
    Lee BH, Kim GH, Oh TJ, Kim JH, Lee JJ, Choi SH, Lee JY, Kim JM, Choi IH, Kim YM, Choi JH, Yoo HW.
    J Hum Genet; 2013 Sep; 58(9):604-10. PubMed ID: 23803580
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  • 38. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.
    Slatter RE, Elliott M, Welham K, Carrera M, Schofield PN, Barton DE, Maher ER.
    J Med Genet; 1994 Oct; 31(10):749-53. PubMed ID: 7837249
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  • 40. Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome.
    Urzua A, Burattini S, Pinochet C, Benavides F, Repetto GM.
    J Pediatr Genet; 2019 Dec; 8(4):226-230. PubMed ID: 31687262
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